M1V (p.Met1Val) variant of DYSF (Dysferlin)
M1V (p.Met1Val) in DYSF (Dysferlin) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes published literature and structural context.
M1V (p.Met1Val) variant details
- p.Met1Val
- rs1259378167
- ClinGen CA347205786
- ClinVar RCV000671280
- Likely pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.581
- MetaLR 0.45
- MetaSVM -0.05
- PolyPhen-2 0.98
- SIFT 0.00
- EVE 0.87
- MutPred 0.80
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Dysferlinopathy. (PMID 20301480)